Complex phenotypes in an Indian family with homozygous SCA2 mutations

We describe a consanguineous Indian family having spinocerebellar ataxia type 2 (SCA2) expansions with complex phenotypes (early‐onset, dopa‐responsive parkinsonism, ataxia and retinitis pigmentosa). The two probands having homozygous SCA2 mutations presenting with early‐onset dopa‐responsive parkin...

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Bibliographic Details
Published in:Annals of neurology 2004-01, Vol.55 (1), p.130-133
Main Authors: Ragothaman, Mona, Sarangmath, Nagaraja, Chaudhary, Shashi, Khare, Vishwamohini, Mittal, Uma, Sharma, Sangeeta, Komatireddy, Sreelatha, Chakrabarti, Subhabrata, Mukerji, Mitali, Juyal, Ramesh C., Thelma, B. K., Muthane, Uday B.
Format: Article
Language:English
Subjects:
Adult
Aged
Ataxia - genetics
Ataxins
Biological and medical sciences
DNA Mutational Analysis
DNA Repeat Expansion
Homozygote
Humans
India
Male
Medical sciences
Middle Aged
Nerve Tissue Proteins
Neurology
Parkinsonian Disorders - genetics
Pedigree
Phenotype
Proteins - genetics
Retinitis Pigmentosa - genetics
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Summary:We describe a consanguineous Indian family having spinocerebellar ataxia type 2 (SCA2) expansions with complex phenotypes (early‐onset, dopa‐responsive parkinsonism, ataxia and retinitis pigmentosa). The two probands having homozygous SCA2 mutations presenting with early‐onset dopa‐responsive parkinsonism without ataxia develop dyskinesias within a year of starting levodopa. Their siblings, heterozygous for SCA2 mutations, had retinitis pigmentosa with or without ataxia. Approximately 38% of family members with SCA2 mutations were asymptomatic.
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.10815